Mütze, Ulrike PD Dr. med.Universität HeidelbergHeidelberg
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Publications in heiBIB 
- Betzler, Isabel R.: Response to Downie et al. / Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F. Garb… , 14 January 2025. - 2 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 48(2025), 1, Artikel-ID e12837, Seite 1-2
DOI: 10.1002/jimd.12837
- Mengler, Katharina: Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening / Katharina Mengler, MD, Sven F. Garbade, PhD, Florian Gleich, Dipl.VW, Eva Thimm, MD, Petra May, MD, … , August 2024. - 11 S. : Illustrationen
In: Pediatrics, ISSN 1098-4275. 154(2024), 2 vom: Aug., Artikel-ID e2023064370, Seite 1-11
DOI: 10.1542/peds.2023-064370
- Mütze, Ulrike: Vitamin B12 deficiency newborn screening / Ulrike Mütze, MD, Florian Gleich, Dipl VW, Dorothea Haas, MD, Michael S. Urschitz, MD, MSc, Wulf Rös… , August 2024. - 10 S.
In: Pediatrics, ISSN 1098-4275. 154(2024), 2 vom: Aug., Artikel-ID e2023064809, Seite 1-10
DOI: 10.1542/peds.2023-064809
- Betzler, Isabel R.: Comparative analysis of gene and disease selection in genomic newborn screening studies / Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F. Garb… , September 2024. - 26 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 5 vom: Sept., Seite 945-970
DOI: 10.1002/jimd.12750
- Reischl-Hajiabadi, Anna Theresa: Newborn screening for aromatic l-amino acid decarboxylase deficiency : strategies, results, and implication for prevalence calculations / Anna T. Reischl-Hajiabadi, Jürgen G. Okun, Dirk Kohlmüller, Georgi Manukjan, Sebastian Hegert, Jürge… , 31 January 2024. - 7 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 141(2024), 3, Artikel-ID 108148, Seite 108148-1-108148-7
DOI: 10.1016/j.ymgme.2024.108148
- Reischl-Hajiabadi, Anna Theresa: Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias / Anna T. Reischl-Hajiabadi, Elena Schnabel, Florian Gleich, Katharina Mengler, Martin Lindner, Peter … , July 2024. - 16 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 4 vom: Juli, Seite 674-689
DOI: 10.1002/jimd.12731
- Zaunseder, Elaine: Personalized metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases / Elaine Zaunseder, Ulrike Mütze, Jürgen G. Okun, Georg F. Hoffmann, Stefan Kölker, Vincent Heuveline,… , 6 August 2024. - 24 S. : Illustrationen
In: Cell metabolism, ISSN 1932-7420. 36(2024), 8 vom: Aug., Seite [1], 1882–1897, e1-e7
DOI: 10.1016/j.cmet.2024.05.006
- Mütze, Ulrike: Neurological outcome in long-chain hydroxy fatty acid oxidation disorders / Ulrike Mütze, Alina Ottenberger, Florian Gleich, Esther M. Maier, Martin Lindner, Ralf A. Husain, Ka… , 23 January 2024. - 16 S. : Illustrationen
In: Annals of Clinical and Translational Neurology, ISSN 2328-9503. 11(2024), 4, Seite 883-898
DOI: 10.1002/acn3.52002
- Maier, Esther M.: Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples / Esther M. Maier, Ulrike Mütze, Nils Janzen, Ulrike Steuerwald, Uta Nennstiel, Birgit Odenwald, Elfri… , 2023. - 20 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. (2023), Seite 1-20
DOI: 10.1002/jimd.12671
- Schnabel-Besson, Elena: Combined newborn screening allows comprehensive identification also of attenuated phenotypes for methylmalonic acidurias and homocystinuria / Elena Schnabel, Stefan Kölker, Florian Gleich, Patrik Feyh, Friederike Hörster, Dorothea Haas, Junmi… , 2023. - 15 S. : Illustrationen
In: Nutrients, ISSN 2072-6643. 15(2023), 15, Artikel-ID 3355, Seite 1-15
DOI: 10.3390/nu15153355
- Tesorero, Rafael: A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry / Rafael Tesorero, Joachim Janda, Friederike Hörster, Patrik Feyh, Ulrike Mütze, Jana Hauke, Kathrin S… , March 10, 2023. - 16 S.
In: PLOS ONE, ISSN 1932-6203. 18(2023), 3 vom: März, Artikel-ID e0283024, Seite 1-16
DOI: 10.1371/journal.pone.0283024
- Reischl-Hajiabadi, Anna Theresa: Maternal vitamin B12 deficiency detected by newborn screening : evaluation of causes and characteristics / Anna T. Reischl-Hajiabadi, Sven F. Garbade, Patrik Feyh, Karl Heinz Weiss, Ulrike Mütze, Stefan Kölk… , 13 September 2022. - 17 S.
In: Nutrients, ISSN 2072-6643. 14(2022), 18, Artikel-ID 3767, Seite 1-17
DOI: 10.3390/nu14183767
- Mütze, Ulrike: How longitudinal observational studies can guide screening strategy for rare diseases / Ulrike Mütze, Katharina Mengler, Nikolas Boy, Florian Gleich, Thomas Opladen, Sven F. Garbade, Stefa… , 29 April 2022. - 13 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 45(2022), 5, Seite 889-901
DOI: 10.1002/jimd.12508
- Kölker, Stefan: Rare disease registries are key to evidence-based personalized medicine : highlighting the european experience / Stefan Kölker, Florian Gleich, Ulrike Mütze and Thomas Opladen on behalf of Scientific Consortia of … , 04 March 2022. - 11 S.
In: Frontiers in endocrinology, ISSN 1664-2392. 13(2022), Artikel-ID 832063, Seite 1-11
- Mütze, Ulrike: Newborn screening and disease variants predict neurological outcome in isovaleric aciduria / Ulrike Mütze, Lucy Henze, Florian Gleich, Martin Lindner, Sarah C. Grünert, Ute Spiekerkoetter, Ren… , 25 January 2021. - 14 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 4 vom: 25. Jan., Seite 1-14
DOI: 10.1002/jimd.12364
- Mütze, Ulrike: Diagnose im Neugeborenenalter - und dann? : Langzeitentwicklung und -versorgung von Patienten mit angeborenen Stoffwechselerkrankungen nach Identifizierung im Neugeborenenscreening / vorgelegt von Dr. med. Anne Ulrike Mütze. -
Heidelberg, 2021. - 1 Band (verschiedene Seitenzählungen) : Illustrationen, Diagramme
- Mütze, Ulrike: Health outcomes of infants with vitamin B12 deficiency identified by newborn screening and early treated / Ulrike Mütze, MD, Magdalena Walter, PhD, Mareike Keller, MSc, Gwendolyn Gramer, MD, Sven F. Garbade,… , 11 February 2021. - 7 S.
In: The journal of pediatrics, ISSN 1097-6833. 235(2021) vom: Aug., Seite 42-48
DOI: 10.1016/j.jpeds.2021.02.009
- Sonnek, Benedikt: Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS) / Benedikt Sonnek, Jan Henje Döring, Ulrike Mütze, Susanne Schubert-Bast, Thomas Bast, Doreen Balke, G… , 2021. - 7 S.
In: European journal of paediatric neurology, ISSN 1532-2130. 30(2021), Seite 121-127
DOI: 10.1016/j.ejpn.2020.10.010
- Mütze, Ulrike: Long-term outcomes of individuals with metabolic diseases identified through newborn screening / Ulrike Mütze, MD, Sven F. Garbade, PhD, Gwendolyn Gramer, MD, Martin Lindner, MD, Peter Freisinger, … , October 13, 2020. - 11 S.
In: Pediatrics, ISSN 1098-4275. 146(2020,5) Artikelnummer e20200444, 11 Seiten
DOI: 10.1542/peds.2020-0444
- Gramer, Gwendolyn: Newborn screening for vitamin B12 deficiency in Germany : strategies, results, and public health implications / Gwendolyn Gramer, MD, Junmin Fang-Hoffmann, MD, Patrik Feyh, Glynis Klinke, PhD, Peter Monostori, Ph… , 2020. - 12 S.
In: The journal of pediatrics, ISSN 1097-6833. 216(2020) Artikel-Nummer 165-172.e4, 12 Seiten
DOI: 10.1016/j.jpeds.2019.07.052
- Tuncel, Ali Tunç: Organic acidurias in adults : late complications and management / Ali Tunç Tuncel, Nikolas Boy, Marina A. Morath, Friederike Hörster, Ulrike Mütze, Stefan Kölker, 15 January 2018. - 12 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 41(2018), 5, Seite 765-776
DOI: 10.1007/s10545-017-0135-2
- Syrbe, Steffen: Delineating SPTAN1 associated phenotypes : from isolated epilepsy to encephalopathy with progressive brain atrophy / Steffen Syrbe, Frederike L. Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L. Helb… , 2017. - 15 S.
In: Brain, ISSN 1460-2156. 140(2017), 9, Seite 2322-2336
DOI: 10.1093/brain/awx195
- Syrbe, Steffen: Phenotypic variability from benign infantile epilepsy to Ohtahara syndrome associated with a novel mutation in SCN2A / Steffen Syrbe, Boris S. Zhorov, Astrid Bertsche, Matthias K. Bernhard, Frauke Hornemann, Ulrike Mütz… , July 19, 2016. - 7 S.
In: Molecular syndromology, ISSN 1661-8777. 7(2016), 4, Seite 182-188
DOI: 10.1159/000447526
- Mütze, Ulrike: Ten years of specialized adult care for phenylketonuria : a single-centre experience / Ulrike Mütze, Alena Gerlinde Thiele, Christoph Baerwald, Uta Ceglarek, Wieland Kiess and Skadi Beblo. -
London: BioMed Central, 24 March 2016
In: Orphanet journal of rare diseases, ISSN 1750-1172. 11(2016) Artikel-Nummer 27, 8 Seiten
DOI: 10.1186/s13023-016-0410-6
- Mütze, Ulrike: Multigene panel next generation sequencing in a patient with cherry red macular spot : Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings / Ulrike Mütze, Friederike Bürger, Jessica Hoffmann, Helmut Tegetmeyer, Jens Heichel, Petra Nickel, Jo… , 2017. - 4 S.
In: Molecular genetics and metabolism reports, ISSN 2214-4269. 10(2017), Seite 1-4
DOI: 10.1016/j.ymgmr.2016.11.004
